Gene Summary

Name:
ankyrin repeat and FYVE domain containing 1
Synonyms:
Ankhzn

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
hydrometra Ankfy1tm1b(KOMP)Mbp HET Early adult 0.00
abnormal heart morphology Ankfy1tm1b(KOMP)Mbp HET Early adult 0.00
embryonic lethality prior to tooth bud stage Ankfy1tm1b(KOMP)Mbp HOM   E12.5 0.00
small superior vagus ganglion Ankfy1tm1b(KOMP)Mbp HET Early adult 0.00
enlarged heart Ankfy1tm1b(KOMP)Mbp HET Early adult 0.00
embryonic lethality prior to organogenesis Ankfy1tm1b(KOMP)Mbp HOM   E9.5 0.00
preweaning lethality, complete penetrance Ankfy1tm1b(KOMP)Mbp HOM   Early adult 0.00
increased monocyte cell number Ankfy1tm1b(KOMP)Mbp HET Early adult 1.40×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 50% (1 of 2)
Brown adipose tissue  Section images heterozygote 50% (1 of 2)
Cecum  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Duodenum  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Gonadal fat pad  Section images heterozygote 50% (1 of 2)
Harderian gland  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Mesenteric adipose tissue  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Parathyroid gland  Section images heterozygote 50% (1 of 2)
Parotid gland  Section images heterozygote 50% (1 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Quadriceps  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Sublingual gland  Section images heterozygote 50% (1 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Trigeminal V nerve  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vagina  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote Not available
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote Not available
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 100% (2 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 100% (2 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Head N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Mandibular process N/A heterozygote Ambiguous
Maxillary process N/A heterozygote Ambiguous
Midbrain N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote Ambiguous
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Urinary system N/A heterozygote 100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
gut Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
trachea Ambiguous
urinary system Ambiguous

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Adult LacZ

LacZ Images Section

129 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Gross Morphology Embryo E9.5

Images

3 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Ankfy1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Ankfy1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Genetic Steroid-Resistant Nephrotic Syndrome
ORPHA:656

The table below shows human diseases predicted to be associated to Ankfy1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Scoliosis, Tremor, Ataxia, Hypotonia, Cerebellar hypoplasia OMIM:213000
Spinocerebellar Ataxia, Autosomal Recessive 2
Limb ataxia, Cerebellar vermis atrophy, Gliosis, Incoordination, Tremor, Spasticity, Gait ataxia,... OMIM:213200
Spinocerebellar Ataxia 43
Limb ataxia, Distal sensory impairment, Cerebellar vermis atrophy, Tremor, Gait ataxia, Rigidity,... OMIM:617018
Spinocerebellar Ataxia Type 31
Spasticity, Tremor, Cerebellar atrophy, Gait ataxia, Impaired vibratory sensation ORPHA:217012
Spastic Paraplegia 62, Autosomal Recessive
Spastic gait, Tip-toe gait, Babinski sign, Difficulty walking, Hoffmann sign, Lower limb spastici... OMIM:615681
Spinocerebellar Ataxia 17
Limb ataxia, Bradykinesia, Apraxia, Broad-based gait, Chorea, Gliosis, Positive Romberg sign, Cer... OMIM:607136
Spinocerebellar Ataxia 37
Tremor, Cerebellar atrophy, Frequent falls, Unsteady gait, Ataxia OMIM:615945
Huntington Disease
Bradykinesia, Chorea, Gliosis, Neuronal loss in central nervous system, Cerebellar atrophy, Gait ... OMIM:143100
Spinocerebellar Ataxia Type 38
Difficulty walking, Tremor, Cerebellar atrophy, Gait ataxia, Somatic sensory dysfunction ORPHA:423296
Episodic Ataxia, Type 1
Spastic gait, Babinski sign, Incoordination, Tremor, Episodic ataxia, Slurred speech OMIM:160120
Spinocerebellar Ataxia 40
Pontocerebellar atrophy, Broad-based gait, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tre... OMIM:616053
Autosomal Spastic Paraplegia Type 30
Spastic gait, Babinski sign, Distal sensory impairment, Scissor gait, Lower limb spasticity, Atax... ORPHA:101010
Spinocerebellar Ataxia, Autosomal Recessive 27
Gait imbalance, Torticollis, Gliosis, Spasticity, Cerebellar atrophy, Gait disturbance, Gait atax... OMIM:618369
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Cerebellar atrophy, Gait ataxia, Action tremor, Head tremor, Upper lim... ORPHA:98769
Cerebellar Ataxia, Cayman Type
Broad-based gait, Truncal ataxia, Gait ataxia, Intention tremor, Nonprogressive cerebellar ataxia... ORPHA:94122
Autosomal Recessive Spastic Paraplegia Type 32
Babinski sign, Difficulty walking, Cerebellar cortical atrophy, Impaired vibration sensation in t... ORPHA:171622
Spinocerebellar Ataxia Type 37
Falls, Truncal ataxia, Dysdiadochokinesis, Cerebellar vermis atrophy, Tremor, Myoclonus, Gait dis... ORPHA:363710
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech OMIM:613227
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Inability to walk, Cerebellar ataxia associated with quadrupedal gait, Truncal ataxia, Cerebellar... OMIM:615268
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Broad-based gait, Cerebellar ve... ORPHA:284332
Spastic Paraplegia 18B, Autosomal Recessive
Babinski sign, Inability to walk, Lower limb spasticity, Scoliosis, Gait disturbance, Kyphosis, S... OMIM:611225
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Cerebellar atrophy, Unsteady gait... OMIM:615768
Spastic Paraplegia 32, Autosomal Recessive
Spastic gait, Babinski sign, Cerebral atrophy, Difficulty walking, Lower limb spasticity, Cerebel... OMIM:611252
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Spastic gait, Babinski sign, Chiari type I malformation, Impaired distal proprioception, Spastici... OMIM:619742
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Gait disturbance, Dystonia, Ata... OMIM:614561
Cerebral Palsy, Ataxic, Autosomal Recessive
Dysdiadochokinesis, Cerebellar atrophy, Cerebral palsy, Broad-based gait OMIM:605388
Spinocerebellar Ataxia 41
Cerebellar vermis atrophy, Cerebellar atrophy, Gait ataxia, Unsteady gait, Ataxia OMIM:616410
Spinocerebellar Ataxia 38
Limb ataxia, Cerebellar vermis atrophy, Atrophy/Degeneration affecting the brainstem, Tremor, Gai... OMIM:615957
Ethanolaminosis
Cardiomegaly OMIM:227150
X-Linked Non Progressive Cerebellar Ataxia
Spastic dysarthria, Cerebellar vermis hypoplasia, Truncal ataxia, Frequent falls, Intention tremo... ORPHA:314978
Spinocerebellar Ataxia 35
Babinski sign, Impaired proprioception, Difficulty walking, Torticollis, Incoordination, Cerebell... OMIM:613908
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Bradykinesia, Babinski sign, Cerebral atrophy, Oromandibular dystonia, Scissor gait, Spasticity, ... ORPHA:521406
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Inability to walk, Cerebellar atrophy, Ataxia, Hypotonia, Appendicular hypotonia OMIM:619333
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Bradykinesia, Global brain atrophy, Apraxia, Neuronal loss in central nervous system, Gliosis, Sp... OMIM:221820
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Cerebellar atrophy, Unsteady gait, Loss of ambulation, Ataxia, Hypotonia, Dysmetria OMIM:617917
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Global brain atrophy, Aplasia of the inferior half of the cerebellar vermis, Atrophy of the denta... OMIM:610185
Spastic Paraplegia 46, Autosomal Recessive
Spastic gait, Babinski sign, Cerebral atrophy, Lower limb spasticity, Ankle clonus, Upper limb dy... OMIM:614409
Spinocerebellar Ataxia Type 35
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Torticollis, Cereb... ORPHA:276193
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Cerebellar atrophy, Frequent fall... OMIM:607317
Spinocerebellar Ataxia Type 12
Bradykinesia, Cerebral atrophy, Tremor by anatomical site, Poor fine motor coordination, Cerebell... ORPHA:98762
Spinocerebellar Ataxia, Autosomal Recessive 22
Lower limb spasticity, Truncal ataxia, Cerebellar atrophy, Intention tremor, Unsteady gait, Ataxi... OMIM:616948
Pontocerebellar Hypoplasia, Type 4
Hypertonia, Gliosis, Spasticity, Hypoplasia of the pons, Myoclonus, Cerebellar hypoplasia, Loss o... OMIM:225753
Migraine, Familial Hemiplegic, 1
Tremor, Cerebellar atrophy, Hemiparesis, Ataxia, Hemiplegia OMIM:141500
Spinocerebellar Ataxia 23
Limb ataxia, Babinski sign, Impaired distal proprioception, Neuronal loss in central nervous syst... OMIM:610245
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Gliosis, Athetosis, Dystonia, Paralysis, Amyotrophic lateral sclerosis OMIM:300857
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Tremor, Gait ataxia, Rigid... ORPHA:98763
Spinocerebellar Ataxia, Autosomal Recessive 6
Spasticity, Cerebellar atrophy, Gait ataxia, Intention tremor, Ataxia, Hypotonia, Generalized hyp... OMIM:608029
Spinocerebellar Ataxia, X-Linked 1
Neonatal hypotonia, Abnormality of extrapyramidal motor function, Cerebellar atrophy, Intention t... OMIM:302500
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:617133
Neurodevelopmental Disorder With Motor Regression, Progressive Spastic Paraplegia, And Oromotor Dysfunction
Cerebral atrophy, Spasticity, Spastic tetraparesis, Cerebellar atrophy, Gait disturbance, Dystonia OMIM:620515
Spinocerebellar Ataxia Type 5
Incoordination, Cerebellar atrophy, Slurred speech, Gait disturbance ORPHA:98766
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Tremor, Ataxia, Myoclonus OMIM:616187
Spinocerebellar Ataxia 45
Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:617769
Spinocerebellar Ataxia 18
Babinski sign, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Progressive gait ataxia, Dysmetria OMIM:607458
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Spinocerebellar Ataxia Type 20
Bradykinesia, Isometric tremor, Tremor by anatomical site, Cerebellar atrophy, Gait ataxia, Inten... ORPHA:101110
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Distal sensory impairment, Axonal degeneration, Fasciculations, Gliosis, Tetraplegia, Gait distur... OMIM:604484
Huntington Disease-Like 1
Bradykinesia, Chorea, Gliosis, Incoordination, Cerebellar atrophy, Poor fine motor coordination, ... ORPHA:157941
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Spastic Ataxia 2, Autosomal Recessive
Cerebral atrophy, Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Cerebellar atro... OMIM:611302
Dystonia With Cerebellar Atrophy
Progressive cerebellar ataxia, Torticollis, Cerebellar atrophy, Craniofacial dystonia, Dystonia OMIM:611694
Autosomal Recessive Spastic Paraplegia Type 67
Spastic gait, Babinski sign, Difficulty walking, Lower limb spasticity, Cerebral cortical atrophy... ORPHA:401820
Lichtenstein-Knorr Syndrome
Limb ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Acti... OMIM:616291
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Cerebral atrophy, Inability to walk, Lower limb spasticity, Broad-based gait, Scoliosis, Waddling... OMIM:616756
Adult Neuronal Ceroid Lipofuscinosis
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Ataxia, Abnormal pyramidal sign... ORPHA:79262
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Cerebellar atrophy, Intention tremor, Rigidity, Ataxia, Myoclonus OMIM:618876
Spinocerebellar Ataxia 12
Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Cerebellar atrophy, Head tremo... OMIM:604326
Developmental And Epileptic Encephalopathy 14
Neuronal loss in central nervous system, Gliosis, Spasticity, Tetraplegia, Clonus, Cerebral corti... OMIM:614959
Dystonia 23
Torticollis, Writer's cramp, Axial dystonia, Cerebellar atrophy, Gait disturbance, Head tremor, L... OMIM:614860
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Progressive cerebellar ataxia, Spastic dysarthria, Spasticity, Scoliosis, Gait ataxia, Cerebral c... ORPHA:314603
Intellectual Developmental Disorder, X-Linked 12
Hyperkinetic movements, Cerebellar vermis hypoplasia, Gliosis, Tremor, Spasticity, Gait disturban... OMIM:300957
Spinocerebellar Ataxia Type 40
Pontocerebellar atrophy, Broad-based gait, Dysdiadochokinesis, Gait ataxia, Intention tremor, Uns... ORPHA:423275
Autosomal Dominant Spastic Ataxia Type 1
Spastic gait, Limb ataxia, Babinski sign, Difficulty walking, Hypertonia, Spastic dysarthria, Low... ORPHA:251282
Spinocerebellar Ataxia 31
Limb ataxia, Cerebellar atrophy, Ataxia, Gait ataxia OMIM:117210
X-Linked Progressive Cerebellar Ataxia
Limb ataxia, Babinski sign, Progressive cerebellar ataxia, Spastic dysarthria, Cerebellar vermis ... ORPHA:1175
Neurodegeneration With Brain Iron Accumulation 7
Cerebral atrophy, Lower limb spasticity, Tremor, Cerebellar atrophy, Axial hypotonia, Dystonia, L... OMIM:617916
Dystonia, Dopa-Responsive
Bradykinesia, Babinski sign, Torticollis, Writer's cramp, Resting tremor, Incoordination, Dysdiad... OMIM:128230
Nescav Syndrome
Cerebral atrophy, Babinski sign, Inability to walk, Appendicular spasticity, Cerebellar vermis at... OMIM:614255
Lopes-Maciel-Rodan Syndrome
Bradykinesia, Cerebral atrophy, Hypertonia, Cerebellar vermis atrophy, Spasticity, Tremor, Cerebe... OMIM:617435
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Cerebellar vermis hypoplasia, Tremor, Cerebellar atrophy, Gait disturbance, Ga... OMIM:618090
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Abnormality of extrapyramidal motor function, Neuronal loss in central nervous sys... OMIM:615362
Machado-Joseph Disease
Limb ataxia, Babinski sign, Bradykinesia, Progressive cerebellar ataxia, Facial-lingual fascicula... OMIM:109150
Spinocerebellar Ataxia, Autosomal Recessive 29
Inability to walk, Lower limb spasticity, Cerebellar vermis atrophy, Cerebellar atrophy, Corpus c... OMIM:619389
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Global brain atrophy, Inability to walk, Tongue fasciculations, Spasticity, Cerebellar atrophy, H... OMIM:618276
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Segawa Syndrome, Autosomal Recessive
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... OMIM:605407
Spinocerebellar Ataxia, Autosomal Recessive 17
Limb ataxia, Oculomotor apraxia, Broad-based gait, Cerebellar vermis hypoplasia, Truncal ataxia, ... OMIM:616127
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Spastic Paraplegia 78, Autosomal Recessive
Bradykinesia, Babinski sign, Distal sensory impairment, Falls, Resting tremor, Impaired tactile s... OMIM:617225
Ceroid Lipofuscinosis, Neuronal, 8
Cerebral atrophy, Cerebellar atrophy, Loss of ambulation, Ataxia, Increased neuronal autofluoresc... OMIM:600143
Glut1 Deficiency Syndrome 1
Babinski sign, Paroxysmal dystonia, Spasticity, Hemiparesis, Ataxia, Myoclonus, Paralysis, Choreo... OMIM:606777
Microcephaly 10, Primary, Autosomal Recessive
Cerebral atrophy, Hypertonia, Gliosis, Spasticity, Cerebellar atrophy, Cerebellar hemisphere hypo... OMIM:615095
Pelizaeus-Merzbacher Disease, Connatal Form
Difficulty walking, Inability to walk, Lower limb spasticity, Gliosis, Titubation, Failure to thr... ORPHA:280210
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Degeneration of the striatum, Dysdiadochokinesis, Tremor, Gait disturbance, Rigidit... OMIM:609161
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Tremor, Limb dystonia, Obesity, Ataxia, Hypotonia, Cerebellar hypoplasia OMIM:620270
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
X-Linked Charcot-Marie-Tooth Disease Type 1
Impaired pain sensation, Scoliosis, Tremor, Gait disturbance, Kyphosis, Ataxia ORPHA:101075
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bradykinesia, Babinski sign, Cerebral atrophy, Apraxia, Falls, Spasticity, Cerebellar atrophy, Ga... OMIM:300423
Spinocerebellar Ataxia 20
Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor OMIM:608687
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Chorea, Tremor, Frequent falls, Axial hypotonia, Unsteady gait ORPHA:494526
Spastic Paraplegia 50, Autosomal Recessive
Babinski sign, Neonatal hypotonia, Limb hypertonia, Gliosis, Cerebellar atrophy, Cerebral palsy, ... OMIM:612936
Spastic Paraplegia, Ataxia, And Mental Retardation
Spastic gait, Babinski sign, Lower limb spasticity, Impaired vibration sensation in the lower lim... OMIM:607565
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
L-2-Hydroxyglutaric Aciduria
Global brain atrophy, Abnormality of extrapyramidal motor function, Gliosis, Spastic tetraparesis... OMIM:236792
Spinocerebellar Ataxia 48
Babinski sign, Chorea, Cachexia, Tremor, Cerebellar atrophy, Gait ataxia, Dystonia, Ataxia, Parki... OMIM:618093
Sandhoff Disease, Adult Form
Fasciculations, Spasticity, Tremor, Gait ataxia, Focal dystonia, Dystonia ORPHA:309169
Neuroectodermal Melanolysosomal Disease
Hypertonia, Spasticity, Tremor, Subcortical cerebral atrophy, Cerebral cortical atrophy, Rigidity... ORPHA:33445
Spinocerebellar Ataxia, Autosomal Recessive 13
Inferior cerebellar vermis hypoplasia, Inability to walk, Dysdiadochokinesis, Tremor, Cerebellar ... OMIM:614831
Mast Syndrome
Cerebral atrophy, Babinski sign, Hypertonia, Apraxia, Incoordination, Dysdiadochokinesis, Athetos... OMIM:248900
Sporadic Creutzfeldt-Jakob Disease
Cerebral atrophy, Babinski sign, Abnormality of extrapyramidal motor function, Neuronal loss in c... ORPHA:204
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Hyperkinetic movements, Chorea, Tremor, Frequent falls, Axial hypotonia, Unsteady ... OMIM:616921
Spinocerebellar Ataxia, Autosomal Recessive 14
Dysdiadochokinesis, Spasticity, Cerebellar atrophy, Gait ataxia, Intention tremor, Unsteady gait,... OMIM:615386
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Cerebral atrophy, Babinski sign, Positive Romberg sign, Spasticity, Cerebellar atrophy, Corpus ca... OMIM:618088
Leukodystrophy, Hypomyelinating, 11
Spasticity, Tremor, Cerebellar atrophy, Failure to thrive, Ataxia, Myoclonus OMIM:616494
Spinocerebellar Ataxia, Autosomal Recessive 12
Limb ataxia, Babinski sign, Lower limb spasticity, Cerebellar vermis atrophy, Spasticity, Cerebel... OMIM:614322
Tremor, Hereditary Essential, 6
Cerebellar atrophy, Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Steppage gait, Distal sensory impairment, Tremor, Cerebellar atrophy, Gait ataxia, Ataxia, Dysmetria OMIM:618387
Frontotemporal Dementia With Motor Neuron Disease
Babinski sign, Global brain atrophy, Progressive cerebellar ataxia, Apraxia, Fasciculations, Abno... ORPHA:275872
X-Linked Charcot-Marie-Tooth Disease Type 4
Impaired pain sensation, Scoliosis, Tremor, Gait disturbance, Kyphosis, Ataxia ORPHA:101078
Cerebellar Ataxia, Cayman Type
Bradykinesia, Broad-based gait, Truncal ataxia, Cerebellar atrophy, Gait ataxia, Intention tremor... OMIM:601238
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Cerebral atrophy, Babinski sign, Impaired proprioception, Progressive cerebellar ataxia, Spastic ... ORPHA:352641
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxia, Parkinsonism, Myoclonus ORPHA:401901
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Apraxia, Chorea, Spasticity, Hemiparesis, Dystonia, Ataxia, Extrapyramidal dyskinesia... ORPHA:71277
X-Linked Intellectual Disability, Hedera Type
Babinski sign, Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Scoliosis, Cerebella... ORPHA:93952
Spastic Paraplegia 30, Autosomal Dominant
Spastic gait, Babinski sign, Lower limb spasticity, Cerebellar atrophy, Spastic paraplegia, Ataxi... OMIM:610357
Peroxisome Biogenesis Disorder 8B
Cerebellar atrophy, Gait ataxia, Corpus callosum atrophy, Rigidity, Ataxia, Tip-toe gait, Babinsk... OMIM:614877
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Falls, Truncal ataxia, Atrophy/Degeneration affecting the brainstem, Cerebellar atro... OMIM:616230
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Chorea, Dysdiadochokinesis, Athetosis, Tremor, Gait disturbance, Cerebellar dentate... OMIM:213600
Familial Infantile Bilateral Striatal Necrosis
Atrophy/Degeneration involving the caudate nucleus, Babinski sign, Hypertonia, Astrocytosis, Spas... ORPHA:225154
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Tremor, Cerebellar atrophy, Ataxia, Myoclonus, Impaired tandem gait, Dysme... OMIM:619028
Spinocerebellar Ataxia, Autosomal Recessive 25
Babinski sign, Truncal ataxia, Ataxia, Cerebellar hypoplasia, Dysmetria OMIM:617584
Spinocerebellar Ataxia, Autosomal Recessive 10
Limb ataxia, Babinski sign, Fasciculations, Truncal ataxia, Cerebellar atrophy, Gait ataxia, Inte... OMIM:613728
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Hyperkinetic movements, Gliosis, Tremor, Gait disturbance, Cerebellar dysplasia, Upper limb spast... ORPHA:457240
Spinocerebellar Ataxia Type 17
Cerebellar Purkinje layer atrophy, Torticollis, Writer's cramp, Chorea, Spasticity, Neuronal loss... ORPHA:98759
Spinocerebellar Ataxia, Autosomal Recessive 8
Limb ataxia, Abnormality of extrapyramidal motor function, Spasticity, Scoliosis, Cerebellar atro... OMIM:610743
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Gait disturbance... OMIM:617145
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Difficulty walking, Broad-based gait, Cerebellar vermis atrophy, Poor fine motor coordination, Ce... ORPHA:512260
Dentatorubral-Pallidoluysian Atrophy
Atrophy of the dentate nucleus, Chorea, Dystonia, Ataxia, Parkinsonism, Myoclonus, Choreoathetosis OMIM:125370
Leukodystrophy, Hypomyelinating, 18
Babinski sign, Atrophy/Degeneration affecting the brainstem, Spasticity, Progressive spasticity, ... OMIM:618404
Dystonia 22, Juvenile-Onset
Oromandibular dystonia, Torticollis, Lower limb spasticity, Dysdiadochokinesis, Cerebellar atroph... OMIM:620453
Spastic Paraplegia 53, Autosomal Recessive
Gait disturbance, Clonus, Spastic paraplegia, Lower limb hypertonia, Kyphosis, Dystonia, Impaired... OMIM:614898
Ceroid Lipofuscinosis, Neuronal, 5
Dysdiadochokinesis, Cerebellar atrophy, Cerebral cortical atrophy, Limb tremor, Loss of ambulatio... OMIM:256731
Autosomal Recessive Spastic Paraplegia Type 53
Impaired proprioception, Limb dystonia, Clonus, Kyphosis, Failure to thrive, Impaired vibratory s... ORPHA:319199
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Inferior cerebellar vermis hypoplasia, Broad-based gait, Cerebellar ataxia associated with quadru... OMIM:224050
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Cerebral atrophy, Apraxia, Neuronal loss in central nervous system, Gliosis, Paraparesis, Extrapy... OMIM:105550
Neurodegeneration With Brain Iron Accumulation 2A
Cerebral atrophy, Neuronal loss in central nervous system, Gliosis, Cerebellar atrophy, Unsteady ... OMIM:256600
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Oculomotor apraxia... ORPHA:284324
Dystonia 1, Torsion, Autosomal Dominant
Babinski sign, Hypertonia, Oromandibular dystonia, Inability to walk, Torticollis, Writer's cramp... OMIM:128100
Encephalopathy, Progressive, With Or Without Lipodystrophy
Cerebral atrophy, Neuronal loss in central nervous system, Spasticity, Tremor, Dystonia, Ataxia, ... OMIM:615924
Roussy-Lévy Syndrome
Limb ataxia, Babinski sign, Somatic sensory dysfunction, Difficulty walking, Kyphoscoliosis, Impa... ORPHA:3115
Myoclonus, Familial, 1
Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus OMIM:614937
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Axial hypotonia, Dystonia, Ataxia OMIM:618425
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Difficulty walking, Distal sensory impairment, Tremor OMIM:615048
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paralysis, Difficulty walking OMIM:608634
Juvenile Huntington Disease
Bradykinesia, Progressive cerebellar ataxia, Broad-based gait, Cerebellar vermis atrophy, Chorea,... ORPHA:248111
Developmental And Epileptic Encephalopathy 37
Cerebral atrophy, Hyperkinetic movements, Chorea, Spasticity, Cerebellar atrophy, Gait disturbanc... OMIM:616981
Rapid-Onset Dystonia-Parkinsonism
Bradykinesia, Torticollis, Resting tremor, Cerebellar atrophy, Craniofacial dystonia, Limb dyston... ORPHA:71517
Spinocerebellar Ataxia 42
Spastic gait, Babinski sign, Impaired vibration sensation at ankles, Tremor, Cerebellar atrophy, ... OMIM:616795
Autosomal Recessive Spastic Paraplegia Type 69
Spastic dysarthria, Lower limb spasticity, Cerebral cortical atrophy, Aplasia/Hypoplasia of the c... ORPHA:401830
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Apraxia, Spasticity, Tremor, Cerebellar atrophy, Gait ataxia, Hypotonia, Cereb... OMIM:617810
Spinocerebellar Ataxia 11
Limb ataxia, Progressive cerebellar ataxia, Gait imbalance, Truncal ataxia, Cerebellar atrophy, G... OMIM:604432
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment OMIM:614369
Spinocerebellar Ataxia, Autosomal Recessive 21
Limb ataxia, Distal sensory impairment, Impaired pain sensation, Cerebellar vermis atrophy, Spast... OMIM:616719
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Babinski sign, Torticollis, Cerebellar vermis atrophy, Frequent falls, Limb dystonia, Dilated fou... OMIM:619054
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Oculomotor apraxia, Cerebellar vermis atrophy, Spasticity, Tremor, Cerebellar atrophy, Poor motor... ORPHA:1170
Autosomal Spastic Paraplegia Type 58
Tip-toe gait, Babinski sign, Cerebral atrophy, Torticollis, Erratic myoclonus, Fasciculations, Ch... ORPHA:397946
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral atrophy, Inability to walk, Abnormality of extrapyramidal motor function, Chorea, Spasti... OMIM:617672
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Incoordination, Cerebellar atrophy, Gait apraxia, Gait ataxia, Ataxia, Babinski sign, Limb fascic... OMIM:615157
Infantile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Chorea, Spasticity, Tremor, Cerebellar atrophy, Poor fine motor coordination, B... ORPHA:79263
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Spasticity, Scoliosis, Cerebellar atrophy, Ataxia, Generalized hypotonia, Spastic tetraplegia OMIM:617207
Spinocerebellar Ataxia 7
Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chore... OMIM:164500
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Babinski sign, Oculomotor apraxia, Cerebellar vermis hypoplasia, Truncal ataxia, Frequent falls, ... ORPHA:453521
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Kyphoscoliosis, Tremor, Ataxia, Generalized hypotonia OMIM:619099
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Neonatal hypotonia, Ataxia OMIM:300703
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Chiari type I malformation, Tremor, Rigidity, Dystonia, Ataxia, Generalized hypotonia OMIM:617836
Spinocerebellar Ataxia 19
Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Cerebellar atrophy, Cogwheel rigidity... OMIM:607346
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Babinski sign, Lower limb spasticity, Impaired vibration sensation in the lower lim... OMIM:600363
Atypical Juvenile Parkinsonism
Bradykinesia, Akinesia, Inability to walk, Resting tremor, Brain atrophy, Scoliosis, Shuffling ga... ORPHA:391411
Porphyria, Acute Hepatic
Respiratory paralysis, Failure to thrive, Hypotonia, Paralysis, Paresthesia OMIM:612740
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Axial hypotonia, Failure to thrive, Ataxia, Short neck OMIM:618951
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Cerebral atrophy, Distal sensory impairment, Abnormality of extrapyramidal motor function, Neuron... OMIM:604218
Cyanide-Induced Parkinsonism-Dystonia
Bradykinesia, Falls, Resting tremor, Subcortical cerebral atrophy, Shuffling gait, Cerebral corti... ORPHA:306692
Spinocerebellar Ataxia 29
Limb ataxia, Truncal titubation, Broad-based gait, Cerebellar vermis hypoplasia, Cerebellar vermi... OMIM:117360
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Refractory anemia, Monocytosis, Leukopenia, Acute myeloid leukemia OMIM:616871
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Babinski sign, Bradykinesia, Cerebral atrophy, Resting tremor, Tremor, Shuff... OMIM:600116
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Babinski sign, Gliosis, Spasticity, Corpus callosum atrophy, Abnormal cerebellum morphology, Atax... OMIM:169500
Spinocerebellar Ataxia Type 27
Limb ataxia, Akinesia, Difficulty walking, Truncal ataxia, Tremor, Cerebellar atrophy, Gait distu... ORPHA:98764
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Difficulty walking, Vocal cord paralysis, Tremor OMIM:158580
Multiple Mitochondrial Dysfunctions Syndrome 6
Inability to walk, Atrophy/Degeneration affecting the brainstem, Spasticity, Cerebellar atrophy, ... OMIM:617954
Behr Syndrome
Babinski sign, Truncal ataxia, Cerebellar vermis atrophy, Tremor, Cerebellar atrophy, Progressive... OMIM:210000
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m... OMIM:260300
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Abnormal cerebellar peduncle mo... ORPHA:98
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Difficulty walking, Inability to walk, Oculogyric crisis, Scoliosis, Tremor, Cerebellar atrophy, ... ORPHA:330050
Lethal Congenital Contracture Syndrome 7
Cerebral atrophy, Cerebellar atrophy, Generalized hypotonia, Hypotonia, Paralysis OMIM:616286
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Tremor, Cerebellar atrophy, Dystonia, Hypotonia, Myoclonus, Abnorm... ORPHA:139485
Spastic Paraplegia 5A, Autosomal Recessive
Spastic gait, Babinski sign, Lower limb spasticity, Impaired distal proprioception, Impaired vibr... OMIM:270800
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Chorea, Spasticity, Tremor, Upper motor neuron dysfunction, Gait disturba... ORPHA:216873
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Tremor, Ataxia, Myoclonus, Dysmetria OMIM:612437
Congenital Disorder Of Glycosylation, Type Iibb
Cerebellar vermis hypoplasia, Spasticity, Tremor, Cerebellar atrophy, Axial hypotonia, Failure to... OMIM:620546
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Fasciculations, Tremor, Loss of ambulation OMIM:182980
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Tongue fasciculations, Kyphosis, Axial hypotonia, Failure to thrive, Ataxia, Appendicular hypotonia OMIM:620007
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Babinski sign, Steppage gait, Hypertonia, Distal sensory impairment, Scoliosis, Tremor, Cerebella... OMIM:616505
Leigh Syndrome
Gliosis, Spasticity, Hepatocellular necrosis, Failure to thrive, Dystonia, Ataxia, Generalized hy... OMIM:256000
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Cerebral atrophy, Babinski sign, Hypertonia, Difficulty walking, Progressive cerebellar ataxia, I... ORPHA:137898
Autosomal Recessive Spastic Paraplegia Type 46
Cerebral atrophy, Babinski sign, Difficulty walking, Spastic dysarthria, Impaired vibration sensa... ORPHA:320391
Spinocerebellar Ataxia 50
Apraxia, Cerebellar vermis atrophy, Chorea, Cerebellar atrophy, Head tremor, Action tremor, Ataxi... OMIM:620158
Spinocerebellar Ataxia Type 2
Cerebellar Purkinje layer atrophy, Progressive cerebellar ataxia, Fasciculations, Chorea, Gait at... ORPHA:98756
Autosomal Recessive Ataxia, Beauce Type
Babinski sign, Neonatal hypotonia, Lower limb spasticity, Fasciculations, Atrophy/Degeneration af... ORPHA:88644
X-Linked Charcot-Marie-Tooth Disease Type 5
Impaired pain sensation, Scoliosis, Tremor, Gait disturbance, Paraparesis, Kyphosis, Ataxia ORPHA:99014
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Ataxia, Sensory, 1, Autosomal Dominant
Abnormal vestibulo-ocular reflex, Babinski sign, Gait instability, worse in the dark, Impaired di... OMIM:608984
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis, Scoliosis, Difficulty walking, Distal sensory impairment OMIM:605285
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Somatic sensory dysfunction, Inability to walk by childhood/adolescence, Steppage gait, Babinski ... ORPHA:99947
Spastic Ataxia 3, Autosomal Recessive
Cerebellar vermis atrophy, Spasticity, Scoliosis, Cerebellar atrophy, Gait ataxia, Cerebral corti... OMIM:611390
Hypermanganesemia With Dystonia 2
Cerebellar atrophy, Limb dystonia, Lower limb hypertonia, Opisthotonus, Clumsiness, Tip-toe gait,... OMIM:617013
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Cerebral atrophy, Babinski sign, Apraxia, Abnormal upper motor neuron morphology, Gliosis, Spasti... OMIM:221770
Spinocerebellar Ataxia 5
Limb ataxia, Broad-based gait, Incoordination, Dysdiadochokinesis, Cerebellar atrophy, Upper moto... OMIM:600224
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Scoliosis, Tremor, Loss of ambulation, Ataxia, Myoclonus OMIM:614018
Spinocerebellar Ataxia 14
Progressive cerebellar ataxia, Impaired vibration sensation at ankles, Cerebellar atrophy, Gait a... OMIM:605361
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Hyperkinetic movements, Global brain atrophy, Chorea, Tremor, Cerebellar atrophy, Act... OMIM:619738
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Cerebral atrophy, Inability to walk, Limb hypertonia, Abnormality of extrapyramidal motor functio... ORPHA:500180
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Limb ataxia, Babinski sign, Hypertonia, Bradykinesia, Cerebellar calcifications, Limb dystonia, R... OMIM:618824
X-Linked Charcot-Marie-Tooth Disease Type 3
Difficulty walking, Inability to walk, Scoliosis, Tremor, Gait disturbance, Spastic paraparesis, ... ORPHA:101077
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Distal sensory impairment, Oculomotor apraxia, Axonal degeneration, Truncal ataxia, ... OMIM:208920
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Ataxia, Small for gestational age OMIM:278780
Leukoencephalopathy, Progressive, With Ovarian Failure
Babinski sign, Apraxia, Spasticity, Cerebellar atrophy, Dystonia, Ataxia, Hand tremor, Neurodegen... OMIM:615889
Stxbp1-Related Encephalopathy
Inability to walk, Spasticity, Tremor, Dystonia, Ataxia, Hypotonia, Spastic tetraplegia ORPHA:599373
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat... ORPHA:314632
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Progressive cerebellar ataxia, Truncal ataxia, Dysdiadochokinesis, Spasticity, Cerebellar atrophy... ORPHA:352403
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Difficulty walking, Brain atrophy, Scoliosis, Tremor, Hemiparesis, Dystonia, Parkin... ORPHA:306669
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Cerebellar cyst, Inability to walk, Gliosis, Basal ganglia gliosis, Dystonia, A... ORPHA:79243
Spinocerebellar Ataxia Type 28
Limb ataxia, Babinski sign, Spasticity, Limb dystonia, Head tremor, Gait ataxia, Rigidity, Dyston... ORPHA:101109
Leukodystrophy, Hypomyelinating, 6
Oculomotor apraxia, Spasticity, Tremor, Cerebellar atrophy, Axial hypotonia, Rigidity, Dystonia, ... OMIM:612438
Spinocerebellar Ataxia 2
Oculomotor apraxia, Fasciculations, Cerebellar atrophy, Action tremor, Rigidity, Ataxia, Myoclonu... OMIM:183090
Urocanase Deficiency
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia, Dysmetria OMIM:276880
Pelizaeus-Merzbacher Disease
Global brain atrophy, Generalized dystonia, Inability to walk, Writer's cramp, Broad-based gait, ... OMIM:312080
Mitochondrial Complex I Deficiency, Nuclear Type 15
Cerebellar atrophy, Kyphosis, Failure to thrive, Dystonia, Generalized hypotonia, Spastic tetrapl... OMIM:618237
Pontocerebellar Hypoplasia, Type 2A
Chorea, Gliosis, Hypoplasia of the pons, Cerebral cortical atrophy, Dystonia, Opisthotonus, Extra... OMIM:277470
Spinocerebellar Ataxia Type 29
Oculomotor apraxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxi... ORPHA:208513
Spastic Paraplegia 7, Autosomal Recessive
Spastic gait, Babinski sign, Lower limb spasticity, Degeneration of the lateral corticospinal tra... OMIM:607259
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Cerebellar atrophy, Axial hypotonia, Ataxia, Hypotonia, Myoclonus, Abnormal pyramidal sign OMIM:612016
Spastic Paraplegia 75, Autosomal Recessive
Spastic gait, Babinski sign, Neonatal hypotonia, Spastic dysarthria, Spasticity, Cerebellar atrop... OMIM:616680
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Writer's cramp, Axial dystonia, Limb dystonia, Action tremor, Upper limb ... ORPHA:464440
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Dystonia 3, Torsion, X-Linked
Chorea, Torsion dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication... OMIM:314250
Spinocerebellar Ataxia 28
Limb ataxia, Babinski sign, Spasticity, Cerebellar atrophy, Gait ataxia, Lower limb hypertonia, D... OMIM:610246
Spinocerebellar Ataxia, Autosomal Recessive 18
Babinski sign, Oculomotor apraxia, Truncal ataxia, Dysdiadochokinesis, Cerebellar vermis atrophy,... OMIM:616204
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Babinski sign, Difficulty walking, Lower limb spasticity, Atrophy/Degeneration affecting the brai... OMIM:612319
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Cerebellar atrophy, Kyphosis, Gait disturbance, Ataxia ORPHA:85317
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Tip-toe gait, Spinal rigidity, Lower limb spasticity, Scoliosis, Hyperlordosis, Gait disturbance,... OMIM:617404
Parkinson Disease 1, Autosomal Dominant
Bradykinesia, Global brain atrophy, Resting tremor, Gliosis, Shuffling gait, Gait disturbance, Ri... OMIM:168601
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Spinocerebellar Ataxia 27B, Late-Onset
Limb ataxia, Postural tremor, Cerebellar atrophy, Gait ataxia OMIM:620174
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Babinski sign, Steppage gait, Hypertonia, Distal sensory impairment, Spasticity, Tremor, Scoliosis OMIM:609260
Hereditary Neuropathy With Liability To Pressure Palsies
Scoliosis, Vocal cord paralysis, Paresthesia ORPHA:640
Spinocerebellar Ataxia, Autosomal Recessive 32
Limb ataxia, Bradykinesia, Torticollis, Atrophy/Degeneration affecting the brainstem, Cerebellar ... OMIM:619862
Spinocerebellar Ataxia Type 21
Akinesia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Cerebellar... ORPHA:98773
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Babinski sign, Difficulty walking, Distal sensory impairment, Axonal degeneration, ... OMIM:302800
Dystonia 27
Oromandibular dystonia, Writer's cramp, Torticollis, Limb dystonia, Action tremor, Postural tremo... OMIM:616411
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Cerebral atrophy, Difficulty walking, Scoliosis, Progressive spasticity, Cerebellar atrophy, Head... ORPHA:527497
Spastic Paraplegia 85, Autosomal Recessive
Babinski sign, Impaired proprioception, Torticollis, Lower limb spasticity, Impaired temperature ... OMIM:619686
Spastic Paraplegia 26, Autosomal Recessive
Spastic gait, Tip-toe gait, Babinski sign, Difficulty walking, Lower limb spasticity, Scoliosis, ... OMIM:609195
Spinocerebellar Ataxia 15
Limb ataxia, Truncal ataxia, Cerebellar atrophy, Gait ataxia, Action tremor, Postural tremor OMIM:606658
Congenital Neuronal Ceroid Lipofuscinosis
Abnormal astrocyte morphology, Spasticity, Gliosis, Cerebellar atrophy, Cerebellar hypoplasia ORPHA:168486
Alexander Disease Type I
Cachexia, Spasticity, Scoliosis, Cerebellar atrophy, Failure to thrive, Ataxia, Generalized hypot... ORPHA:363717
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Limb ataxia, Torticollis, Truncal ataxia, Spasticity, Cerebellar atrophy, Limb dystonia, Head tit... OMIM:617560
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor, Generalized hypotonia OMIM:264070
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebral atrophy, Tremor, Cerebellar atrophy, Titubation, Unsteady gait, Ataxia, Dysmetria OMIM:619405
Dystonia 28, Childhood-Onset
Tip-toe gait, Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial ... OMIM:617284
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Scoliosis, Cerebellar atrophy, Kyphosis, Unsteady gait, Ataxia OMIM:300861
Intellectual Developmental Disorder, X-Linked 111
Kyphoscoliosis, Hippocampal atrophy, Spasticity, Cerebral palsy, Corpus callosum atrophy, Dystoni... OMIM:301107
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Scoliosis, Tremor, Ataxia, Hypotonia OMIM:616421
Corticobasal Syndrome
Bradykinesia, Akinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigid... ORPHA:454887
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Cerebral atrophy, Difficulty walking, Lower limb spasticity, Spasticity, Scoliosis, Waddling gait... ORPHA:464282
Spinocerebellar Ataxia 46
Limb ataxia, Positive Romberg sign, Cerebellar atrophy, Gait ataxia, Dysmetria OMIM:617770
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis, Difficulty walking, Distal sensory impairment OMIM:613710
Spinocerebellar Ataxia, Autosomal Recessive 26
Limb ataxia, Oculomotor apraxia, Impaired distal proprioception, Positive Romberg sign, Dysdiadoc... OMIM:617633
Spinocerebellar Ataxia 49
Babinski sign, Abnormality of extrapyramidal motor function, Dysdiadochokinesis, Cerebellar atrop... OMIM:619806
Leukoencephalopathy With Vanishing White Matter 1
Gliosis, Spasticity, Gait disturbance, Unsteady gait, Generalized hypotonia, Hypotonia OMIM:603896
Tay-Sachs Disease
Global brain atrophy, Inability to walk, Ankle clonus, Fasciculations, Incoordination, Gliosis, D... ORPHA:845
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Difficulty walking, Inability to walk, Scoliosis, Tremor, Waddling gait, Limb m... ORPHA:2590
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Limb ataxia, Truncal ataxia, Cerebellar atrophy, Gait disturbance, Ataxia, Unsteady gait ORPHA:284271
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cerebral atrophy, Babinski sign, Hypertonia, Gliosis, Spasticity, Cerebral palsy, Limb dystonia, ... OMIM:619847
Atypical Rett Syndrome
Pill-rolling tremor, Neonatal hypotonia, Inability to walk, Apraxia, Impaired pain sensation, Spa... ORPHA:3095
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Neutropenia, Lymphopenia ORPHA:2688
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Peroxisome Biogenesis Disorder 5B
Neonatal hypotonia, Oculomotor apraxia, Tremor, Cerebellar atrophy, Unsteady gait, Ataxia, Genera... OMIM:614867
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Axial hypotonia, Failure to thrive, Dystonia, Myoclonus OMIM:619651
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Babinski sign, Resting tremor, Spasticity, Cogwheel rigidity, Parkinsonism OMIM:300911
Dystonia 11, Myoclonic
Writer's cramp, Torticollis, Tremor, Hypotonia, Myoclonus OMIM:159900
Spastic Tetraplegia And Axial Hypotonia, Progressive
Babinski sign, Hypertonia, Lower limb spasticity, Fasciculations, Cerebellar atrophy, Spastic tet... OMIM:618598
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Paroxysmal dyskinesia, Limb hypertonia, Resting tremor, Chorea, Involuntary movements, Axial hypo... OMIM:606703
Primary Dystonia, Dyt13 Type
Generalized dystonia, Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involu... ORPHA:98807
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Hypotonia OMIM:619561
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Tip-toe gait, Babinski sign, Steppage gait, Lower limb spasticity, Broad-based gait, Fasciculatio... OMIM:615290
Spinocerebellar Ataxia Type 26
Limb ataxia, Babinski sign, Progressive cerebellar ataxia, Truncal ataxia, Cerebellar atrophy, Pr... ORPHA:101112
Spastic Paraplegia 79B, Autosomal Recessive
Hoffmann sign, Babinski sign, Impaired proprioception, Cerebral atrophy, Impaired vibration sensa... OMIM:615491
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Fasciculations, Tongue fasciculations, Tremor, Impaired distal vibration sensa... ORPHA:276435
Spinocerebellar Ataxia 44
Dysdiadochokinesis, Spasticity, Cerebellar atrophy, Frequent falls, Gait ataxia, Ataxia, Dysmetria OMIM:617691
Gerstmann-Straussler Disease
Limb ataxia, Bradykinesia, Apraxia, Truncal ataxia, Spasticity, Tremor, Cerebellar atrophy, Gait ... OMIM:137440
Spinocerebellar Ataxia 8
Progressive cerebellar ataxia, Incoordination, Spasticity, Tremor, Cerebellar atrophy, Abnormal p... OMIM:608768
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Cerebral atrophy, Tremor, Cerebellar atrophy, Rigidity, Dystonia, Parkinsonism, Spa... ORPHA:329284
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Distal sensory impairment, Impaired pain sensation, Scoliosis, Kyphosis, Obesity, Unsteady gait, ... OMIM:618124
Machado-Joseph Disease Type 1
Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra... ORPHA:276238
Machado-Joseph Disease Type 2
Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra... ORPHA:276241
Spinocerebellar Ataxia 34
Limb ataxia, Fasciculations, Dysdiadochokinesis, Spasticity, Cerebellar atrophy, Gait ataxia, Int... OMIM:133190
Spinocerebellar Ataxia, Autosomal Recessive 7
Limb ataxia, Babinski sign, Truncal titubation, Oculomotor apraxia, Cerebellar atrophy, Gait atax... OMIM:609270
Masa Syndrome
Lower limb spasticity, Paraplegia, Hyperlordosis, Shuffling gait, Kyphosis, Spastic paraplegia OMIM:303350
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Difficulty walking, Oculomotor apraxia, Spasticity, Tremor, Cerebellar atrophy, Gait ataxia, Gene... ORPHA:529665
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Babinski sign, Hypertonia, Limb hypertonia, Neuronal loss in central nervous system, Gliosis, Myo... OMIM:614498
Hemimegalencephaly
Hemiparesis, Gliosis, Abnormal neuron morphology, Myoclonus ORPHA:99802
Ataxia-Telangiectasia-Like Disorder
Oculomotor apraxia, Cerebellar vermis hypoplasia, Chorea, Dysdiadochokinesis, Cerebellar atrophy,... ORPHA:251347
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Babinski sign, Bradykinesia, Kyphoscoliosis, Apraxia, Facial hypotonia, Resting tre... OMIM:300055
Pontocerebellar Hypoplasia, Type 1A
Limb ataxia, Fasciculations, Tongue fasciculations, Basal ganglia gliosis, Hypoplasia of the pons... OMIM:607596
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Gliosis, Axial hypotonia, Head titubation, Diffuse cerebral atrophy, Vestibular areflexia, Spasti... ORPHA:3240
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Gliosis, Hypotonia, Lower limb spasticity OMIM:615119
Amyotrophic Lateral Sclerosis 2, Juvenile
Spastic gait, Spastic tetraparesis, Spasticity of facial muscles, Head titubation, Ataxia, Opisth... OMIM:205100
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Tremor, Dystonia, Hypotonia, Myoclonus, Choreoathetosis OMIM:261630
Sandhoff Disease
Failure to thrive, Ataxia, Kyphosis ORPHA:796
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Cerebral atrophy, Parkinsonism, Paralysis, Abnormal lower motor neuron morphology, Amyotrophic la... OMIM:105500
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Tremor, Hippocampal sclerosis, Myoclonus OMIM:615400
Parkinson Disease 19A, Juvenile-Onset
Pill-rolling tremor, Bradykinesia, Limb hypertonia, Spasticity, Shuffling gait, Rigidity, Dystoni... OMIM:615528
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Babinski sign, Spasticity, Tremor, Cerebellar atrophy, Cerebral cortical atrophy, Dystonia, Loss ... OMIM:607694
Ataxia-Telangiectasia-Like Disorder 1
Oculomotor apraxia, Lower limb spasticity, Chorea, Dysdiadochokinesis, Cerebellar atrophy, Freque... OMIM:604391
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi... OMIM:620135
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Tremor, Gait disturbance, Cerebellar dentate nucleus calcification, Dystonia, Ataxia,... ORPHA:542310
Marinesco-Sjogren Syndrome
Limb ataxia, Cerebellar cortical atrophy, Spasticity, Scoliosis, Cerebellar atrophy, Kyphosis, Ga... OMIM:248800
Intellectual Developmental Disorder, X-Linked 104
Cerebral cortical atrophy, Spasticity, Tremor, Ataxia OMIM:300983
Perrault Syndrome 1
Scoliosis, Cerebellar atrophy, Intention tremor, Gait ataxia, Ataxia, Spastic diplegia OMIM:233400
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Hypertonia, Inability to walk, Tremor, Failure to thrive, Ataxia, Hypotonia, Cerebellar hypoplasia OMIM:619556
Parkinsonism-Dystonia 2, Infantile-Onset
Oculogyric crisis, Incoordination, Dysdiadochokinesis, Tremor, Shuffling gait, Axial hypotonia, D... OMIM:618049
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Inability to walk, Lower limb spasticity, Tongue fasciculations, Gliosis, Atrophy/Degeneration af... OMIM:617193
Progressive Supranuclear Palsy
Bradykinesia, Falls, Neuronal loss in central nervous system, Gliosis, Tremor, Blepharospasm, Cer... ORPHA:683
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Lower limb spasticity, Tremor, Paraparesis, Progressive extrapyramidal movement disor... OMIM:612736
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
Cerebrooculofacioskeletal Syndrome 1
Kyphoscoliosis, Brain atrophy, Gliosis, Cerebellar atrophy, Axial hypotonia, Failure to thrive, D... OMIM:214150
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Chorea, Scoliosis, Kyphosis, Intention tremor, Cerebral cortical atrophy, Ataxia, Abnormal pyrami... ORPHA:48431
Machado-Joseph Disease Type 3
Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra... ORPHA:276244
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Scoliosis, Action tremor, Ataxia, Hypotonia, Poor coordination OMIM:617665
Hyperphenylalaninemia, Bh4-Deficient, A
Bradykinesia, Hypertonia, Limb hypertonia, Tremor, Axial hypotonia, Rigidity, Dystonia, Ataxia, P... OMIM:261640
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Axial hypotonia, Dystonia, Myoclonus OMIM:619647
Spastic Paraplegia 20, Autosomal Recessive
Spastic gait, Babinski sign, Kyphoscoliosis, Difficulty walking, Impaired vibration sensation at ... OMIM:275900
Baralle-Macken Syndrome
Neonatal hypotonia, Global brain atrophy, Inability to walk, Spasticity, Kyphosis, Obesity, Dystonia OMIM:619255
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Eyelid myoclonus, Pontocerebellar atrophy, Oculomotor apraxia, Spina bifida occulta, Incoordinati... OMIM:618060
Gm2-Gangliosidosis, Ab Variant
Cerebral atrophy, Hypertonia, Chorea, Spastic tetraparesis, Exaggerated startle response, Axial h... OMIM:272750
Mannosidosis, Alpha B, Lysosomal
Limb ataxia, Babinski sign, Increased vertebral height, Thoracolumbar kyphosis, Spondylolisthesis... OMIM:248500
Mepan Syndrome
Cerebral atrophy, Axial dystonia, Chorea, Spasticity, Cerebellar atrophy, Craniofacial dystonia, ... ORPHA:508093
Immunodeficiency 21
Aplastic anemia, Cervical intraepithelial neoplasia, Anemia, Neutropenia, B lymphocytopenia, Lymp... OMIM:614172
Gm1-Gangliosidosis, Type Iii
Anterior beaking of lumbar vertebrae, Scoliosis, Kyphosis, Diffuse cerebral atrophy, Dystonia, At... OMIM:230650
Boucher-Neuhauser Syndrome
Spinocerebellar atrophy, Abnormal upper motor neuron morphology, Spasticity, Cerebellar atrophy, ... OMIM:215470
Hsd10 Disease
Frontotemporal cerebral atrophy, Tremor, Gait disturbance, Infantile muscular hypotonia, Rigidity... ORPHA:391417
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w... ORPHA:240103
Spinocerebellar Ataxia 13
Limb ataxia, Progressive cerebellar ataxia, Spasticity, Cerebellar atrophy, Myoclonus, Impaired d... OMIM:605259
Charcot-Marie-Tooth Disease Type 4A
Distal sensory impairment, Inability to walk, Impaired distal proprioception, Impaired pain sensa... ORPHA:99948
Atypical Progressive Supranuclear Palsy Syndrome
Bradykinesia, Kyphoscoliosis, Oculomotor apraxia, Falls, Tremor by anatomical site, Freezing of g... ORPHA:99750
Spastic Ataxia 5, Autosomal Recessive
Oculomotor apraxia, Dysdiadochokinesis, Spasticity, Cerebellar atrophy, Dystonia, Ataxia, Spastic... OMIM:614487
Juvenile Amyotrophic Lateral Sclerosis
Chorea, Cachexia, Head titubation, Ataxia, Opisthotonus, Amyotrophic lateral sclerosis, Tip-toe g... ORPHA:300605
Spinocerebellar Ataxia 6
Abnormal vestibulo-ocular reflex, Progressive cerebellar ataxia, Truncal ataxia, Incoordination, ... OMIM:183086
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Tremor OMIM:165300
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Difficulty walking, Tongue fasciculations, Scoliosis, Tremor, Frequent falls, Myoclonus, Degenera... OMIM:159950
Immunodeficiency 83, Susceptibility To Viral Infections
Hemiparesis, Gliosis OMIM:613002
Spinocerebellar Ataxia Type 42
Spastic gait, Babinski sign, Impaired vibration sensation at ankles, Resting tremor, Cerebellar v... ORPHA:458803
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Babinski sign, Difficulty walking, Broad-based gait, Tremor, Spastic paraplegia, Failure to thriv... ORPHA:477673
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Cerebral atrophy, Akinesia, Tremor, Cerebellar atrophy, Rigidity, Dystonia, Parkins... OMIM:300894
Huntington Disease-Like 2
Bradykinesia, Chorea, Action tremor, Cerebral cortical atrophy, Rigidity, Dystonia, Weight loss OMIM:606438
Spinocerebellar Ataxia Type 19/22
Limb ataxia, Difficulty walking, Impaired vibration sensation at ankles, Broad-based gait, Trunca... ORPHA:98772
Tremor, Hereditary Essential, 1
Action tremor, Hand tremor, Postural tremor OMIM:190300
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Vocal cord paralysis OMIM:607641
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Truncal ataxia, Chorea, Tremor, Gait ataxia, Generalized hypotonia, Myoclonus OMIM:618587
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Hypertonia, Impaired tactile sensation, Brain atrophy, Tremor, Thoracic kyphosis, Gait ataxia, At... OMIM:619092
Roussy-Levy Hereditary Areflexic Dystasia
Kyphoscoliosis, Distal sensory impairment, Gait ataxia, Action tremor, Upper limb postural tremor OMIM:180800
Spinocerebellar Ataxia 4
Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Cerebellar atrophy, Limb... OMIM:600223
Brain Dopamine-Serotonin Vesicular Transport Disease
Hypertonia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Shuffling gait, Spastic tetraparesis, ... ORPHA:352649
Neurodegeneration With Brain Iron Accumulation 3
Bradykinesia, Babinski sign, Writer's cramp, Chorea, Spasticity, Tremor, Blepharospasm, Laryngeal... OMIM:606159
Combined Oxidative Phosphorylation Deficiency 58
Difficulty walking, Appendicular spasticity, Gliosis, Cerebellar atrophy, Exaggerated startle res... OMIM:620451
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spastic dysarthria, Oculomotor apraxia, Dysdiadochokinesis, Spasticity, Cerebellar atrophy, Dysto... ORPHA:313772
Dystonia 12
Bradykinesia, Torticollis, Tremor, Dystonia, Unsteady gait, Parkinsonism OMIM:128235
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Bradykinesia, Hemiballismus, Hypertonia, Cerebral atrophy, Inability to walk, Truncal ataxia, Spa...